Also known as : AID-HIES, hyper-IgE syndrome (HIES), Job syndrome, (STAT3-HIES)
Autosomal dominant hyper-IgE syndrome is a rare inherited condition that affects the immune system and the development of certain tissues in the body. People with AD-HIES have difficulty fighting some infections, particularly those involving the skin and lungs, which often begin in childhood and may be severe or slow to heal.
Individuals with this condition typically have very high levels of IgE antibodies, along with chronic eczema-like skin rashes, recurrent skin infections, and repeated lung infections. Over time, lung infections can lead to ongoing inflammation and progressive, permanent lung damage.
In addition to immune system problems, AD-HIES can affect bones, teeth, and connective tissue. Common features include delayed loss of baby teeth, frequent bone fractures, joint flexibility, and distinctive facial features. AD-HIES is usually inherited in an autosomal dominant pattern of mutations in the STAT3 gene, meaning a single altered gene copy can cause the condition. While there is no cure, early diagnosis and ongoing care can help reduce infections and improve long-term health.